Single-center experience of congenital disorders of glycosylation syndrome screening in Tunisia: A retrospective study over a 15-year period (2007-2021).

Background: We report the results gathered over 15 years of screening for congenital disorders of glycosylation syndrome (CDGS) in Tunisia according to clinical and biochemical characteristics.

Methods: Our laboratory received 1055 analysis requests from various departments and hospitals, for children with a clinical suspicion of CDGS. The screening was carried out through separation of transferrin isoforms by capillary zone electrophoresis.

Smart control of soil water and salt content for improving irrigation management of tomato crop field: Kairouan area.

A good assessment of soil water and salt content is required for sustainable irrigation with brackish/saline water. The use of the Internet of Things (IoT) has been initiated for the tomato crop (Savera variety) as part of the PRIMA MEDITOMATO project. An experiment was carried out between February and June 2022 at a farmer's site.

The nutritional composition of six plant species after irrigation with treated wastewater and possible hazards by heavy metal accumulation.

A field experiment was conducted investigating the possibility of using treated wastewater (TWW) on sites affected by water scarcity in summer, waterlogging during the wet season, and salinity. A corresponding pot experiment was conducted comparable to the field experiment in Kalaât Landelous. The same plant species (Atriplex nummularia Lindl.

Deciphering Plant-Induced Responses toward and Attacks in Two Grapevine Cultivars Colonized by the Root Biocontrol Oomycete, .

Two major diseases that affect grapevine leaves and berries are controlled by the oomycete . As the efficacy of biocontrol agents strongly depends on factors such as the trophic behaviors of pathogens and cultivar susceptibility, a two-disease approach was implemented to evaluate the activity of against (the necrotrophic fungus of gray mold) and (the biotrophic oomycete of downy mildew) on two grapevine cultivars with different susceptibilities to these two pathogens. The results show that grapevine root inoculation with significantly reduced and infection on the leaves of the two cultivars, but with differences.

Autoantibodies to Zinc Transporter 8 and Genotype in Type 1 Diabetes Childhood: A Pioneering Study in North Africa.

Background: Type 1 diabetes (T1D) occurs as a result of insulin deficiency due to destructive lesions of pancreatic cells. In addition to classical autoantibodies (Abs) to islet cell antigens, antizinc transporter 8 Abs (ZnT8-Ab) have been recently described in T1D.

Objective: As no data on ZnT8-Ab in Tunisian patients has been reported, we aim to evaluate the relationships between ZnT8-Ab, ZnT8 coding gene () promoter polymorphism, and T1D risk in newly diagnosed children.

-Micronucleus Test Application for Saline Irrigation Water Risk Assessment.

In view of climate change, increasing soil salinity is expected worldwide. It is therefore important to improve prediction ability of plant salinity effects. For this purpose, brackish/saline irrigation water from two areas in central and coastal Tunisia was sampled.

Heterocyclic Chemistry Applied to the Design of -Acyl Homoserine Lactone Analogues as Bacterial Quorum Sensing Signals Mimics.

-acyl homoserine lactones (AHLs) are small signaling molecules used by many Gram-negative bacteria for coordinating their behavior as a function of their population density. This process, based on the biosynthesis and the sensing of such molecular signals, and referred to as Quorum Sensing (QS), regulates various gene expressions, including growth, virulence, biofilms formation, and toxin production. Considering the role of QS in bacterial pathogenicity, its modulation appears as a possible complementary approach in antibacterial strategies.

Tunisian Maturity-Onset Diabetes of the Young: A Short Review and a New Molecular and Clinical Investigation.

Introduction/aims: Maturity-Onset Diabetes of the Young (MODY) is a monogenic non-autoimmune diabetes with 14 different genetic forms. MODY-related mutations are rarely found in the Tunisian population. Here, we explored MODY related genes sequences among seventeen unrelated Tunisian probands qualifying the MODY clinical criteria.

Occurrence of Hypopituitarism in Tunisian Turner Syndrome patients: familial versus sporadic cases.

Objective: To explore unusual association between Turner Syndrome (TS) and Hypopituitarism in a Tunisian cohort.

Methods: We reported 6 patients with TS associated to Hypopituitarism, including three familial cases except the fourth sister who showed only a TS phenotype. Biochemical analysis, resonance magnetic imaging and cytogenetic analyses were performed.

Mitochondrial disease patients with novel ND4 12058A > C and ND1 m.3911A > G variations: implications for a role in the phenotype following a bioinformatic investigation.

Mitochondrial diseases include a wide group of clinically heterogeneous disorders caused by a dysfunction of the mitochondrial respiratory chain and can be related to mutations in nuclear or mitochondrial DNA genes. In the present report, we performed a whole mitochondrial genome screening in two patients with clinical features of mitochondrial diseases. Mutational analysis revealed the presence of two undescribed heteroplasmic mitochondrial variations, the m.

High Diagnostic Yield of Targeted Next-Generation Sequencing in a Cohort of Patients With Congenital Hypothyroidism Due to Dyshormonogenesis.

Objective: To elucidate the molecular cause in a well-characterized cohort of patients with Congenital Hypothyroidism (CH) and Dyshormonogenesis (DH) by using targeted next-generation sequencing (TNGS).

Study Design: We studied 19 well-characterized patients diagnosed with CH and DH by targeted NGS including genes involved in thyroid hormone production. The pathogenicity of novel mutations was assessed based on prediction tool results, functional studies when possible, variant location in important protein domains, and a review of the recent literature.

Mapping heavy metal (Cu, Zn, and Pb) pollution and ecological risk assessment, in the surroundings of Gabes cement plant-Tunisia.

The pollution and contamination assessment of three heavy metals (Cu, Pb, and Zn) in the topsoil, and common plants (, , , , , and ) were carried out at different distances from a cement plant. This evaluation was based on four evaluation methods: Bioconcentration factor, Contamination factor, Geoaccumulation Index and Potential ecological risk factor. The chlorophylls a and b contents were also analyzed.

Preliminary national report on cystic fibrosis epidemiology in Tunisia: the actual state of affairs.

Aim: To establish a preliminary national report on clinical and genetic features of cystic fibrosis (CF) in Tunisian children as a first measure for a better health care organization.

Methods: All children with CF diagnosed by positive sweat tests between 1996 and 2015 in children's departments of Tunisian university hospitals were included. Data was recorded at diagnosis and during the follow-up from patients' medical records.

Mutations in aARS genes revealed by targeted next-generation sequencing in patients with mitochondrial diseases.

Mitochondrial diseases are a clinically heterogeneous group of multisystemic disorders that arise as a result of various mitochondrial dysfunctions. Autosomal recessive aARS deficiencies represent a rapidly growing group of severe rare inherited mitochondrial diseases, involving multiple organs, and currently without curative option. They might be related to defects of mitochondrial aminoacyl t-RNA synthetases (mtARS) that are ubiquitous enzymes involved in mitochondrial aminoacylation and the translation process.

Salinity decreases cadmium accumulation in Vicia faba.

The study investigates the effect of cadmium (Cd), salinity (NaCl), and combined stress on rhizosphere pH, growth parameters, membrane leakage, and genotoxicity in Vicia faba. Germinated seeds were exposed for 48 h to 0.01 mM Cd(NO) (Cd), 50 mM NaCl (S50), 150 mM NaCl (S150), and Cd-NaCl (CdS50 and CdS150).

Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.

Pompe disease, a rare, autosomal, recessive, inherited, lysosomal storage disorder, is caused by mutations in the acid α-glucosidase (GAA) gene leading to a deficiency of the lysosomal GAA enzyme. Some GAA mutations eliminate all enzymatic activities, causing severe infantile Pompe disease; others allow residual GAA activity and lead to middle adulthood forms. Here, we report a cohort of 12 patients, belonging to 11 unrelated families, with infantile Pompe disease.

A novel variant in a Tunisian patient with primary ciliary dyskinesia.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous hereditary disease caused by the structural abnormalities and dysfunction of motile cilia. The is the most frequently mutated gene in PCD patients and hot spot exons were reported in this gene. Here, we aim to screen mutations in a set of five hot spot exons of gene in a cohort of 10 clinically diagnosed Tunisian PCD patients using an optimized polymerase chain reaction-single-strand conformational polymorphism screening technique.

Primary ciliary dyskinesia gene contribution in Tunisia: Identification of a major Mediterranean allele.

Primary ciliary dyskinesia (PCD) is a genetically heterogeneous disease of motile cilia. Even though PCD is widely studied, North-African patients have been rarely explored. In this study, we aim at confirming the clinical diagnosis and explore the genetic spectrum of PCD in a cohort of Tunisian patients.

Copy-number variation of the NPHP1 gene in patients with juvenile Nephronophthisis.

: Juvenile nephronophthisis (NPHP) is an autosomal recessive cystic disease of the kidney. It represents the most frequent genetic cause of chronic renal failure in children. : we investigated clinical and molecular features in two children with Juvenile nephronophthisis using firstly Multiplex ligation-dependent probe amplification (MLPA) and secondly multiplex PCR.

Saline soil reclamation by agroforestry species under Kalaât Landelous conditions and irrigation with treated wastewater in Tunisia.

Irrigation with treated waste water (TWW) in combination with plantation of agroforest species was tested in the Kalaât Landelous region for the reclamation of salt affected soils. Five species (Atriplex nummularia, Eucalyptus gomphocephala, Acacia cyanophylla, Casuarina glauca, Pinus halepensis) were cultivated in saline soils that are affected by shallow, saline groundwater and were irrigated with TWW during the summer season. The results after 4 years of experimentation show a distinct decrease in soil pH and salinity accompanied by a decrease in Cl and Na concentrations.

Hemophagocytic Lymphohistiocytosis: A Rare Complication of an Ultrarare Lysosomal Storage Disease.

Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening hyperinflammatory condition that may be triggered by infections, autoimmune and immunologic disorders, malignancies, and metabolic diseases. Early and accurate diagnosis of HLH and its underlying cause is of paramount importance for proper management and prognosis. We report the case of a Tunisian 21-month-old girl who initially presented clinical features of HLH related to a lysosomal acid lipase deficiency.

[Virus and Atypical Pathogens Detected in Community-Acquired Lower Respiratory Tract Infection in Infants and Children of Sfax Region, Tunisia].

Little is known about viral and atypical bacteria pathogen spectra of community-acquired lower respiratory tract infection in children in Tunisia. Thus, a prospective study was carried out between January 2009 and March 2010 in Sfax. Nasopharyngeal aspirates collected from 368 patients (78 with pneumonia and 290 with acute bronchiolitis) were analyzed by indirect immunofluorescence assay and PCR to detect influenza viruses, parainfluenza viruses, respiratory syncytial virus (RSV), human metapneumovirus, human rhinovirus, human enterovirus, adenovirus, coronavirus, (Mpn) and (Cpn).

Hypoparathyroidism in children: a study of eight cases.

Background: Hypoparathyroidism is a rare pediatric endocrine disease, which is caused by low circulating levels of PTH or insensitivity to its action in the target tissues.

Aim: To report the clinical and biochemical characteristics and theoutcome of 8 patients with hypoparathyroidism.

Methods: We analyzed retrospectively the results of clinical, biochemical, radiological findings of patients with hypoparathyroidism diagnosed in pediatric department of Hedi Chaker Hospital during the period 1994-2013.